Zguricas J, Snijders P J, Hovius S E, Heutink P, Oostra B A, Lindhout D
Department of Plastic and Reconstructive Surgery, Academic Hospital Rotterdam, The Netherlands.
J Med Genet. 1994 Jun;31(6):462-7. doi: 10.1136/jmg.31.6.462.
Triphalangeal thumb (TPT), a long, finger-like thumb with three phalanges instead of two, is regarded as a subtype of preaxial polydactyly. It can occur as a sporadic disorder, but is more often seen as a dominant familial trait. We describe four white Dutch families in which triphalangeal thumb has variable expression and is sometimes associated with preaxial extra rays, rudimentary postaxial polydactyly, cutaneous syndactyly of the hands, and, rarely, postaxial polydactyly and syndactyly of the feet. A comparison with similar familial conditions reported during the past 10 years is provided. The potential significance of linkage and molecular genetic analysis for better insight into the pathogenesis of complex hand malformations is discussed.
三指节拇指（TPT）是一种长而类似手指的拇指，有三个指节而非两个，被视为轴前多指畸形的一种亚型。它可作为一种散发性疾病出现，但更常表现为显性家族性特征。我们描述了四个荷兰白人家庭，其中三指节拇指有不同的表现形式，有时还伴有轴前额外指、残留的轴后多指畸形、手部皮肤并指，以及罕见的足部轴后多指畸形和并指。本文还与过去10年报道的类似家族性疾病进行了比较。讨论了连锁分析和分子遗传学分析对于深入了解复杂手部畸形发病机制的潜在意义。
